E25K (p.Glu25Lys) variant of CASP3 (Caspase-3)
E25K (p.Glu25Lys) in CASP3 (Caspase-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
E25K (p.Glu25Lys) variant details
- p.Glu25Lys
- rs776881401
- ClinGen CA3154093
- NCI-TCGA Cosmic COSV1003
- cosmic curated COSV10039
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- REVEL 0.10
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available